A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.

Progressive myoclonus epilepsy (PME) has a number of causes, of which Unverricht-Lundborg disease (ULD) is the most common. ULD has previously been mapped to a locus on chromosome 21 (EPM1). Subsequently, mutations in the cystatin B gene have been found in most cases.

Effect of erythropoietin therapy on polyneuropathy in predialytic patients.

Background: Peripheral neuropathy commonly develops in patients with advanced chronic renal failure. The uremic neuropathy is often subclinical and detectable only by electrophysiological studies. Receptors to erythropoietin (EPO) have been described on non-hematopoietic cells including neuronal cells.

Incidence, mortality, and case-fatality rate of stroke in northern Israel.

We studied the incidence and mortality of stroke in northern Israel to determine possible reasons for the differences previously found in mortality from this condition between the sex and ethnic groups in Israel as a whole. We identified 1,149 cases of stroke during 1984. While the age-standardized incidence was higher in men, the case-fatality rate was twice as high in women.

Accidental intrathecal vincristine administration. Report of a case.

A case is described of accidental intrathecal administration of vincristine, with detailed clinical observations over a 17-day period. The clinical picture resembled that seen with toxicity from intravenously administered vincristine, but was rapidly progressive and resulted in death. The onset was characterised by opisthotonos, followed by ascending paralysis and finally bulbar and cerebral involvement.

Spontaneous regression of malignant melanoma.

The case of a 47-year-old white female patient has been described with malignant melanoma that started as a node on her right ankle twelve years ago and regressed spontaneously. During the last two years of her life, dissemination of the melanoma appeared in the form of subcutaneous nodes, which regressed spontaneously in successive crops. In the course of her disease there was evidence of distant metastases to the brain.

Myocardial infarction association with the Riley-Day syndrome.

The "sudden death" of a 23-year-old Ashkenazy Jew, suffering from "familial dysautonomia" was probably caused by an arrhythmia accompanying a myocardial infarction. Such a report is unique. Diffuse coronary atherosclerosis and direct myocardial "catecholamine cardiomyopathy" seem responsible for the myocardial damage.